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Table 4 Germ line BRCA2 pathogenic mutations in breast and ovarian cancer families from Asturias

From: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

Exon BIC nomenclature HGVS nomenclature Predicted effect N families Families origen Comments
3   c.262_263delCT p.Leu88Alafs 1 Andalucía Novel
10 2041insA c.1813dupA p.Ile605Asnfs 2 Asturias Worldwide
11   c.2095 C>T p.Gln699* 3 Asturias Novel
11 3058A>T c.2830A>T p.Lys944* 1 Dominican Republic Worldwide
11   c.3263dupC p.Gln1089Serfs 1 Albacete Novel
11   c.4030_4035delinsC p.Asn1344Hisfs 6 Asturias Novel
11 4859insA c.4631dupA p.Asn1544Lysfs 1 Asturias Europe
11 5344del4 c.5116_5119delAATA p.Asn1706Leufs 1 Castilla/León Castilla/León, Founder
11 5804del4 c.5576_5579delTTAA p.Ile1859Lysfs 1 País Vasco País Vasco
18   c.8042_8043delCA p.Thr2681Serfs 1 Andalucía Novel
23 9254del5 c.9026_9030delATCAT p.Tyr3009Serfs 1 Cantabria Cataluña, Founder
25 9538delAA c.9310_9311delAA p.Lys3104Valfs 1 Castilla/León Castilla/León, Founder